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Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1)

1
Center for Neuromuscular Diseases, Unit of Neurology, ASST Spedali Civili and University of Brescia, 25100 Brescia, Italy
2
Department of Neuroscience, Unit of Neurology, Azienda Ospedaliera Universitaria Integrata Verona, 37100 Verona, Italy
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2018, 7(11), 389; https://doi.org/10.3390/jcm7110389
Received: 2 October 2018 / Revised: 14 October 2018 / Accepted: 24 October 2018 / Published: 26 October 2018
(This article belongs to the Special Issue Advances in Metabolic Myopathies)
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Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE-MTDPS1) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause a loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues, and mitochondrial dysfunction. The clinical picture includes progressive gastrointestinal dysmotility, cachexia, ptosis and ophthalmoparesis, peripheral neuropathy, and diffuse leukoencephalopathy, which usually lead to death in early adulthood. Other two MNGIE-type phenotypes have been described so far, which are linked to mutations in POLG and RRM2B genes. Therapeutic options are currently available in clinical practice (allogeneic hematopoietic stem cell transplantation and carrier erythrocyte entrapped thymidine phosphorylase therapy) and newer, promising therapies are expected in the near future. Since successful treatment is strictly related to early diagnosis, it is essential that clinicians be warned about the clinical features and diagnostic procedures useful to suspect diagnosis of MNGIE-MTDPS1. The aim of this review is to promote the knowledge of the disease as well as the involved mechanisms and the diagnostic processes in order to reach an early diagnosis. View Full-Text
Keywords: MNGIE; MTDPS1; mitochondrial diseases; mitochondrial therapy; mitochondrial neurogastrointestinal encephalopathy MNGIE; MTDPS1; mitochondrial diseases; mitochondrial therapy; mitochondrial neurogastrointestinal encephalopathy
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Filosto, M.; Cotti Piccinelli, S.; Caria, F.; Gallo Cassarino, S.; Baldelli, E.; Galvagni, A.; Volonghi, I.; Scarpelli, M.; Padovani, A. Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1). J. Clin. Med. 2018, 7, 389.

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